Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs1239681664 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 15 | ||
rs796065343 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 12 | |||
rs121913370 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 10 | |||
rs1190999960 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 9 | |||
rs12343867 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 9 | ||
rs636832 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 8 | ||
rs121908587 | 0.827 | 0.120 | 4 | 54278380 | missense variant | C/T | snv | 6 | |||
rs387906517 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 6 | |||
rs121913448 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 5 | |||
rs121913461 | 0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv | 5 | |||
rs267607040 | 0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv | 5 | |||
rs267607042 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 5 | |||
rs6503691 | 0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 | 5 | ||
rs1057519773 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 4 | |||
rs1060500091 | 0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv | 4 |